ClinVar Miner

List of variants in gene DSP reported as pathogenic

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Gene type:
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Total variants: 124
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HGVS dbSNP
NC_000006.11:g.(?_7570650)_(7586131_?)del
NM_001008844.3(DSP):c.5826del (p.Lys1943fs) rs397514039
NM_004415.3(DSP):c.2131_2132delAG (p.Ser711Cysfs) rs587782927
NM_004415.3(DSP):c.491_492delCCins15 (p.?)
NM_004415.4(DSP):c.1058_1059CT[1] (p.Leu354fs) rs1249913357
NM_004415.4(DSP):c.1087C>T (p.Gln363Ter) rs778856526
NM_004415.4(DSP):c.1141-2A>G rs794728111
NM_004415.4(DSP):c.1146del (p.Phe382fs) rs397516913
NM_004415.4(DSP):c.1162del (p.Thr388fs) rs1554106742
NM_004415.4(DSP):c.1182del (p.Leu395fs) rs1554106743
NM_004415.4(DSP):c.1282dup (p.Ile428fs) rs1561687796
NM_004415.4(DSP):c.1411_1412insT (p.Gln471fs)
NM_004415.4(DSP):c.151C>T (p.Gln51Ter) rs794728156
NM_004415.4(DSP):c.1582C>T (p.Gln528Ter) rs1267435790
NM_004415.4(DSP):c.1691C>T (p.Thr564Ile) rs606231295
NM_004415.4(DSP):c.1762C>T (p.Gln588Ter)
NM_004415.4(DSP):c.1790C>T (p.Ser597Leu) rs606231294
NM_004415.4(DSP):c.1817_1846dup (p.Arg606_Ala615dup) rs606231293
NM_004415.4(DSP):c.1831C>T (p.Gln611Ter)
NM_004415.4(DSP):c.1847A>C (p.Gln616Pro) rs1184921987
NM_004415.4(DSP):c.1853A>C (p.His618Pro) rs1554107096
NM_004415.4(DSP):c.1857C>A (p.Tyr619Ter) rs1554107097
NM_004415.4(DSP):c.1865T>C (p.Leu622Pro) rs1554107098
NM_004415.4(DSP):c.1873C>T (p.Gln625Ter) rs876657638
NM_004415.4(DSP):c.1883del (p.Gly628fs) rs1060500613
NM_004415.4(DSP):c.1990C>T (p.Gln664Ter) rs121912995
NM_004415.4(DSP):c.1A>G (p.Met1Val) rs1131691557
NM_004415.4(DSP):c.2323C>T (p.Gln775Ter)
NM_004415.4(DSP):c.2427T>A (p.Cys809Ter) rs121912994
NM_004415.4(DSP):c.243_251del (p.Cys81_Arg84delinsTer) rs794728135
NM_004415.4(DSP):c.2497C>T (p.Gln833Ter) rs1561693779
NM_004415.4(DSP):c.250C>T (p.Arg84Ter) rs768521444
NM_004415.4(DSP):c.2528C>A (p.Ser843Ter) rs1057518920
NM_004415.4(DSP):c.2547T>A (p.Tyr849Ter) rs1554107624
NM_004415.4(DSP):c.2602C>T (p.Gln868Ter) rs1060500618
NM_004415.4(DSP):c.2644G>T (p.Glu882Ter) rs730880081
NM_004415.4(DSP):c.268C>T (p.Gln90Ter) rs886039343
NM_004415.4(DSP):c.2725C>T (p.Gln909Ter) rs1561694696
NM_004415.4(DSP):c.273+1G>A rs794728106
NM_004415.4(DSP):c.273del (p.Glu92fs) rs794728136
NM_004415.4(DSP):c.2821C>T (p.Arg941Ter) rs730880082
NM_004415.4(DSP):c.2865_2869CAATT[1] (p.Asn956_Ser957insTer) rs794728139
NM_004415.4(DSP):c.2876_2877+3del rs730880023
NM_004415.4(DSP):c.2947_2948del (p.Thr983fs) rs1554107839
NM_004415.4(DSP):c.3044_3047dup (p.Phe1016fs) rs1554107916
NM_004415.4(DSP):c.3126_3127delinsT (p.Arg1042fs) rs1561696970
NM_004415.4(DSP):c.3133C>T (p.Arg1045Ter) rs1554108012
NM_004415.4(DSP):c.3160_3169del (p.Lys1054fs) rs397516932
NM_004415.4(DSP):c.3195C>G (p.Tyr1065Ter) rs886039178
NM_004415.4(DSP):c.3241G>T (p.Glu1081Ter) rs1554108050
NM_004415.4(DSP):c.3290_3291dup (p.Asp1098Ter) rs1561697181
NM_004415.4(DSP):c.329_330delinsAA (p.Cys110Ter) rs1561680649
NM_004415.4(DSP):c.330_334del (p.Phe111fs)
NM_004415.4(DSP):c.3337C>T (p.Arg1113Ter) rs746877365
NM_004415.4(DSP):c.3348T>A (p.Tyr1116Ter) rs772646601
NM_004415.4(DSP):c.3415_3417delinsG (p.Tyr1139fs) rs1064794616
NM_004415.4(DSP):c.3419del (p.Asp1140fs) rs794728140
NM_004415.4(DSP):c.3426dup (p.Gln1143fs) rs794728141
NM_004415.4(DSP):c.3474dup (p.Glu1159fs) rs727503000
NM_004415.4(DSP):c.3630T>A (p.Tyr1210Ter) rs727503001
NM_004415.4(DSP):c.3733del (p.Glu1245fs) rs794728142
NM_004415.4(DSP):c.3735_3741dup (p.Asp1248fs) rs1554108152
NM_004415.4(DSP):c.3799C>T (p.Arg1267Ter) rs121912997
NM_004415.4(DSP):c.3805C>T (p.Arg1269Ter) rs767643821
NM_004415.4(DSP):c.3865C>T (p.Gln1289Ter) rs778178956
NM_004415.4(DSP):c.3961C>T (p.Gln1321Ter) rs794728119
NM_004415.4(DSP):c.4009del (p.Glu1337fs) rs794727381
NM_004415.4(DSP):c.4037_4041del (p.Asn1346fs) rs1561698362
NM_004415.4(DSP):c.4054A>T (p.Arg1352Ter) rs794728121
NM_004415.4(DSP):c.4180C>T (p.Gln1394Ter) rs140474226
NM_004415.4(DSP):c.4198C>T (p.Arg1400Ter) rs770873593
NM_004415.4(DSP):c.423-1G>T rs1304410089
NM_004415.4(DSP):c.4235_4237delinsG (p.Leu1412fs) rs1554108280
NM_004415.4(DSP):c.4305_4309del (p.Thr1436fs) rs1554108287
NM_004415.4(DSP):c.4353_4357del (p.Arg1452fs) rs886039009
NM_004415.4(DSP):c.4357C>T (p.Gln1453Ter) rs1561698750
NM_004415.4(DSP):c.4372C>T (p.Arg1458Ter) rs28763965
NM_004415.4(DSP):c.4395T>G (p.Tyr1465Ter) rs1236464864
NM_004415.4(DSP):c.4423del (p.Thr1475fs)
NM_004415.4(DSP):c.4531C>T (p.Gln1511Ter) rs397516940
NM_004415.4(DSP):c.465del (p.Ile156fs) rs1554105911
NM_004415.4(DSP):c.478C>T (p.Arg160Ter) rs397516943
NM_004415.4(DSP):c.4822C>T (p.Gln1608Ter) rs1060500610
NM_004415.4(DSP):c.4882_4886delinsTTCT (p.Arg1628fs) rs1554108410
NM_004415.4(DSP):c.4999C>T (p.Gln1667Ter) rs1554108431
NM_004415.4(DSP):c.5210del (p.Gly1737fs)
NM_004415.4(DSP):c.5212C>T (p.Arg1738Ter) rs794728124
NM_004415.4(DSP):c.523C>T (p.Gln175Ter)
NM_004415.4(DSP):c.5269C>T (p.Gln1757Ter) rs1554108477
NM_004415.4(DSP):c.5321_5322AG[3] (p.Glu1776fs) rs1394836623
NM_004415.4(DSP):c.5460_5466del (p.Val1821fs) rs1554108610
NM_004415.4(DSP):c.5460dup (p.Val1821fs) rs1554108609
NM_004415.4(DSP):c.5550_5557delinsGTG (p.Gln1851fs) rs1554108621
NM_004415.4(DSP):c.5665_5666GA[4] (p.Lys1892fs) rs1487814687
NM_004415.4(DSP):c.5671_*1792delinsAGAGAAGAACAGTCTT
NM_004415.4(DSP):c.5680_5683del (p.Ser1894fs) rs774763657
NM_004415.4(DSP):c.5745dup (p.Lys1916Ter) rs1060500607
NM_004415.4(DSP):c.5771_5772CA[1] (p.Gln1925fs) rs1561701401
NM_004415.4(DSP):c.5800C>T (p.Arg1934Ter) rs121912996
NM_004415.4(DSP):c.5851C>T (p.Arg1951Ter) rs869025395
NM_004415.4(DSP):c.6091_6092del (p.Leu2031fs) rs397514040
NM_004415.4(DSP):c.6398dup (p.Val2134fs) rs794728147
NM_004415.4(DSP):c.6466dup (p.Arg2156fs) rs1554108859
NM_004415.4(DSP):c.6496C>T (p.Arg2166Ter) rs141026028
NM_004415.4(DSP):c.6510_6511insCT (p.Asn2171fs) rs794728148
NM_004415.4(DSP):c.6581_6582CA[1] (p.His2195fs) rs1561702771
NM_004415.4(DSP):c.6850C>T (p.Arg2284Ter) rs794728130
NM_004415.4(DSP):c.6940G>T (p.Glu2314Ter) rs1057518101
NM_004415.4(DSP):c.699G>A (p.Trp233Ter) rs397516955
NM_004415.4(DSP):c.7096C>T (p.Arg2366Cys) rs28931610
NM_004415.4(DSP):c.7097G>A (p.Arg2366His) rs387906618
NM_004415.4(DSP):c.7248del (p.Phe2416fs) rs730880024
NM_004415.4(DSP):c.7780del (p.Ser2594fs) rs397514045
NM_004415.4(DSP):c.7873dup (p.Thr2625fs) rs794728149
NM_004415.4(DSP):c.7899dup (p.Thr2634fs) rs1131691561
NM_004415.4(DSP):c.8014C>T (p.Gln2672Ter) rs1064793890
NM_004415.4(DSP):c.8501G>A (p.Arg2834His) rs121912999
NM_004415.4(DSP):c.861T>G (p.Asn287Lys) rs121912993
NM_004415.4(DSP):c.888C>G (p.Tyr296Ter) rs149701627
NM_004415.4(DSP):c.88G>A (p.Val30Met) rs121912998
NM_004415.4(DSP):c.897C>G (p.Ser299Arg) rs121912992
NM_004415.4(DSP):c.928dup (p.Glu310fs) rs794728137
NM_004415.4(DSP):c.939+1G>A rs727504443
NM_004415.4(DSP):c.991C>T (p.Gln331Ter) rs121912991

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